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首页> 外文期刊>EMBO Journal >Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
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Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

机译：人类muscleblind蛋白质的招聘(CUG) (n)与肌强直的扩展营养不良

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Myotonic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated with a (CTG), expansion in the 3'-untranslated region of the DM1 protein kinase (DMPK) gene. To explain disease pathogenesis, the RNA dominance model proposes that the DM1 mutation produces a gain-of-function at the RNA level in which CUG repeats form RNA hairpins that sequester nuclear factors required for proper muscle development and maintenance. Here, we identify the triplet repeat expansion (EXP) RNA-binding proteins as candidate sequestered factors. As predicted by the RNA dominance model, binding of the EXP proteins is specific for dsCUG RNAs and proportional to the size of the triplet repeat expansion. Remarkably, the EXP proteins are homologous to the Drosophila muscleblind proteins required for terminal differentiation of muscle and photoreceptor cells. EXP expression is also activated during mammalian myoblast differentiation, but the EXP proteins accumulate in nuclear foci in DMI cells. We propose that DM1 disease is caused by aberrant recruitment of the EXP proteins to the DMPK transcript (CUG)(n) expansion. [References: 38]
机译：肌强直性营养不良(DM1)是一种常染色体显性遗传神经肌肉障碍与(玻纤)相关联,扩张的3 '非翻译区DM1蛋白激酶(DMPK)基因。疾病的发病机理,RNA主导模式提出DM1突变产生的功能CUG RNA水平重复形式RNA发夹,削减核需要适当的肌肉发展的因素和维护。重复扩张(EXP) rna结合蛋白候选人的因素。RNA优势模型,结合实验特定dsCUG rna和蛋白质三个一组重复的大小成正比扩张。对果蝇同源muscleblind蛋白质要求终端分化的肌肉和感光细胞。激活在哺乳动物成肌细胞分化,但EXP蛋白质积累在核疫源地DMI细胞。疾病是由于异常的招聘EXP蛋白质DMPK成绩单(CUG) (n)扩张。

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